Canonical Allele Identifier: CA423878839

Gene: COG2

Linked Data

• MyVariant Identifiers: chr1:g.230825819T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690073T>C , CM000663.2:g.230690073T>C	GRCh38
NC_000001.10:g.230825819T>C , CM000663.1:g.230825819T>C	GRCh37
NC_000001.9:g.228892442T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1854T>C MANE Select	ENSP00000355629.4:p.Leu618=
ENST00000366668.7:c.1851T>C	ENSP00000355628.3:p.Leu617=
ENST00000366669.8:c.1854T>C	ENSP00000355629.4:p.Leu618=
ENST00000468893.6:c.*1712T>C	ENSP00000476305.1:n.*1712T>C
ENST00000478710.1:n.113T>C
ENST00000490900.1:n.633T>C
ENST00000534989.1:c.1677T>C	ENSP00000440349.1:p.Leu559=
NM_001145036.1:c.1851T>C	NP_001138508.1:p.Leu617=
NM_007357.2:c.1854T>C	NP_031383.1:p.Leu618=
NM_007357.3:c.1854T>C MANE Select	NP_031383.1:p.Leu618=
NM_001145036.2:c.1851T>C	NP_001138508.1:p.Leu617=